a Department of Biology , Maynooth University, National University of Ireland , Maynooth , Ireland.
b Department of Physiology II , University of Bonn , Bonn , Germany.
Expert Rev Proteomics. 2018 Mar;15(3):277-291. doi: 10.1080/14789450.2018.1429923. Epub 2018 Jan 23.
The clinical evaluation of neuromuscular symptoms often includes the assessment of altered blood proteins or changed enzyme activities. However, the blood concentration of many muscle-derived serum markers is not specific for different neuromuscular disorders and also shows alterations in the course of these diseases. Thus, the establishment of more reliable biomarker signatures for improved muscle diagnostics is required. Areas covered: To address the lack of muscle disease-specific marker molecules, mass spectrometry-based proteomics was applied to the systematic identification and biochemical characterization of new serum biomarker candidates. This article outlines serum proteomics in relation to neuromuscular disorders and reviews the bioanalytical results from recent proteomic profiling studies of representative neuromuscular disorders, including motor neuron disease, muscular dystrophies and sarcopenia of old age. Pathophysiological changes in the skeletal muscle proteome are reflected by serum alterations in a variety of sarcomeric proteins, metabolic enzymes and signaling proteins. Expert commentary: Based on the proteomic identification of actively secreted or passively released skeletal muscle proteins following pathophysiological insults, new biomarker candidates can now be used to develop liquid biopsy procedures for superior diagnostic approaches, design novel prognostic tools and establish more reliable methods for the systematic evaluation of experimental therapies to treat neuromuscular disease.
神经肌肉症状的临床评估通常包括对血液蛋白改变或酶活性变化的评估。然而，许多源自肌肉的血清标志物的血液浓度对于不同的神经肌肉疾病并不具有特异性，并且在这些疾病的过程中也会发生改变。因此，需要建立更可靠的生物标志物特征，以改善肌肉诊断。
为了解决缺乏肌肉疾病特异性标记分子的问题，基于质谱的蛋白质组学被应用于新的血清生物标志物候选物的系统鉴定和生化特征分析。本文概述了与神经肌肉疾病相关的血清蛋白质组学，并回顾了最近对代表性神经肌肉疾病（包括运动神经元疾病、肌肉营养不良症和老年肌少症）的蛋白质组学分析研究的生物分析结果。骨骼肌蛋白质组的病理生理变化反映在各种肌节蛋白、代谢酶和信号蛋白的血清改变中。
基于对病理生理损伤后主动分泌或被动释放的骨骼肌蛋白的蛋白质组学鉴定，现在可以使用新的生物标志物候选物来开发用于高级诊断方法的液体活检程序，设计新的预后工具，并建立更可靠的方法来系统评估治疗神经肌肉疾病的实验疗法。
